- Clinical and Experimental Health Sciences
- Vol: 11 Issue: 3
- Mutations and expression profile of EDIL3 and correlation with HIF1A and tumor-associated carbonic a...
Mutations and expression profile of EDIL3 and correlation with HIF1A and tumor-associated carbonic anhydrases in pancreatic cancer
Authors : Dilara Fatma AKIN, Rahsan ILIKCI
Pages : 418-425
Doi:10.33808/clinexphealthsci.756701
View : 6 | Download : 3
Publication Date : 2021-09-27
Article Type : Research
Abstract :Objective: EDIL3 expression levels are raised in some types of cancer which means that it can be used as a candidate tumor marker. Hypoxia upregulates tumor-associated carbonic anhydrases in cancer genesis. In this study, we aimed to investigate whether EDIL3 plays a role in the hypoxic microenvironment of pancreatic cancer. Methods: Gene expression and mutation profiles of pancreatic cancer patients and healthy tissue samples were downloaded The Cancer Genome Atlas (TCGA), and the genetic alterations and expression levels of the EDIL3, HIF1A, CA IX and CA XII genes were analyzed. Additionally, PolyPhen-2 and SNAP tools were used to prediction and confirmation of detected alterations pathogenicity and survival analysis was performed. Results: Expression level of EDIL3, HIF1A and CA IX were found to be statistically significant higher in the patient compared to healthy group and we showed also positive correlation between EDIL3 and HIF1A gene expression. Furthermore, low CA IX and CA XII expression level were found effective on overall survival (p<0.05). Additionally, 8 missense mutations were detected in the coding region of studied genes. Conclusion: We suggested that relationship between EDIL3 and HIF1A in pancreatic cancer and EDIL3 is a novel molecule cancer development in pancreatic cancer.Keywords : EDIL3, HIF1A, mutation, expression